Stillbirth Publications

Management of Stillbirth: Obstetric Care Consenus

No, 10. Obstet Gynecol 2020; 135: e110–e132.

Academy of Obstetrics and Gynecology (USA) consensus guidelines regarding the management of stillbirth
Most recently updated March 2020 Recommends microarray in all cases of stillbirth
Guidelines not yet updated to reflect potential contribution of single gene disorders

Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death

Nat Med 2023; 29: 180–189.

200 families from diverse sites all offered WES or WGS
Stillbirth or euploid loss >13 weeks
Definitive or candidate genetic diagnosis in 105 families (58%)
Majority of definitive diagnosis were de novo findings in the proband
Multiple families used findings for reproductive planning (e.g. preimplantation genetic diagnosis).

Copy number variants and fetal growth in stillbirths

Am J Obstet Gynecol 2023; 228:579.e1-11

393 stillbirths examined, 16% had abnormal microarray (including aneuploidies)
Small for gestational age outcome more common among those with abnormal CNV than in those with a normal microarray
Study conducted as a secondary analysis of the Stillbirth Collaborative Network data

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Points to consider in the practice of postmortem genetic testing: A statement of the American College of Medical Genetics and Genomics

Genet Med 2023; 100017.

Fetal phenotypes emerge as genetic technologies become robust.

Prenat Diagn. 2019;39(9):811‐817. https://doi.org/10.1002/pd.5532

More robust fetal phenotyping is needed as prenatal sequencing opportunities expand.
Pediatric and adult phenotype ontologies exist to provide opportunity for systemic assessment of genotype-phenotype correlations.
Cases from two institutions demonstrating the importance of fetal phenotyping are highlighted, demonstrating the growing importance of fetal dysmorphology to better understand prenatal genetic testing results.

Whole-exome sequencing in deceased fetuses with ultrasound anomalies: a retrospective analysis.

BMC Med Genomics 2023; 16: 25.

Sixty-one cases with deceased fetuses with ultrasound abnormalities and normal CMA were retrospective examined using WES
Twenty-eight cases were positive for 39 total variants (7 VUS)Skeletal system anomalies yielded the highest detection rate (~40%)

Stillbirth